Condition: Dyskinetic syndrome
rs1554389088
in
CAMK2B
gene and
Dyskinetic syndrome
PMID 29100089
2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
rs752513525
in
NDUFA13
gene and
Dyskinetic syndrome
PMID 25901006
2015 Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
rs139455627
in
TSPEAR
gene and
Dyskinetic syndrome
PMID 27736875
2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
rs1569151872
in
TSPEAR-AS1;TSPEAR
gene and
Dyskinetic syndrome
PMID 27736875
2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.